2q24.1-q31.1CNV Type: Deletion
Largest CNV size: 12340000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A large deletion spanning the 2q24.1-q31.1 region was detected in a male patient with severe developmental delay who died at 16 months of age.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
traylor_12_DD/ID_discovery_cases
Patients ascertained by Signature Genomic Laboratories (Spokane, WA) following referral for clinical aCGH testing and by Nemours Children's Clinic (Orlando, Florida).
4
Developmental delay/intellectual disability (DD/ID)
Range, 16 mos.-11.5 yrs.
100% Male
12340000
1
0
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
traylor_12_DD/ID_discovery_cases-case4
16 mos.
M
Developmental delay
Patient died at 16 months of age, most likely due to respiratory failure. Birth/neonatal history: born at 39 weeks via induced vaginal delivery to 30-year-old G2P1 mother following uncomplicated pregnancy; noted to have dysmorphic features and to be small for gestational age (birth weight 3rd %ile). Epilepsy/seizures: onset at 11 weeks; infantile spasms and complex partial seizures, intractable. EEG: mild, diffuse dysfunction in both hemispheres (at 4 months); frequent left temporal interictal discharges (at 6 months), unusual diffusely slow background pattern and multifocal sharp wave discharges that were potentially epileptogenic (at 9 months). Brain imaging: MRI at 4 months showed Chiari I malformation. Respiratory evaluation: respiratory failure. Gastrointestinal evaluation: G-tube feedings. Endocrine evaluation: hypothyroidism. Ophthalmological evaluation: bilateral colobomas. Dysmorphic features: craniosynostosis, small downslanting palpebral fissures, posteriorly rotated ears, wide-spaced nipples, chordee of penis, brachydactyly, single transverse palmar crease on right hand, bridge palmar crease on left hand. Growth parameters: weight <3rd %ile (-5 SD), height <3rd %ile (-4 SD), OFC <3rd %ile (-7.2 SD).
Severe developmental delay
158743197
171083804
12340608
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
traylor_12_DD/ID_discovery_cases-case4
FISH
Unknown
NA
Unknown
OR7E89P,OR7E28P,RNU2-21P,BTF3L4P2,RNU6-580P,GSTM3P2,MIR6888,MIR4785,RN7SL423P,LINC01806,RNA5SP108,TBR1,AHCTF1P1,KRT18P46,RPEP5,TIMM8AP1,EIF3EP2,GCG,RNA5SP109,RPL7P61,RNU6-627P,PRPS1P1,CYP2C56P,SNORA70F,RNA5SP110,RNA5SP111,MAPRE1P3,RN7SKP152,RNU7-148P,CTAGE14P,RN7SL813P,MIR4774,RNU6-766P,CERS6-AS1,PHOSPHO2,PTCHD3P2,RNU6-1006P,HMGB1P4,LINC01124,SP5,EIF2S2P4,OR7E90P,MARCH7,LY75,LINC02478,FAP,GCA,SLC38A11,GALNT3,XIRP2-AS1,B3GALT1,SPC25,G6PC2,UBE2V1P6,BBS5,KLHL41,FASTKD1,CCDC173,SSB,METTL5,GAD1,GORASP2,DAPL1,TANC1,WDSUB1,CD302,LY75-CD302,PLA2R1,ITGB6,TANK,PSMD14,DPP4,IFIH1,FIGN,GRB14,COBLL1,SCN3A,SCN2A,TTC21B,TTC21B-AS1,SCN1A,SCN9A,SCN7A,XIRP2,STK39,CERS6,ABCB11,DHRS9,LRP2,PPIG,KLHL23,MYO3B,ERICH2,TLK1,RBMS1,SLC4A10,KCNH7,CSRNP3,NOSTRIN,UBR3,BAZ2B
Controls
No Control Data Available
No Animal Model Data Available